title: Cerebral cavernous malformation: clinical report of two families with variable phenotype associated with KRIT1 mutation.
abstract: We report two families with a variable presentation in association with a KRIT1 mutation. The index patient in Family 1 was a 9-year old girl who presented with left hemi-dystonia and a cerebral cavernous malformation was identified in the right lentiform nucleus. The maternal grandmother presented with a spinal cavernoma, which was operated at 35-years of age. The mother presented with intractable temporal lobe epilepsy in childhood and underwent temporal lobe resection at 27-years of age. The second family has also presented variably with the youngest member of this family presenting with generalised tonic-clonic seizures at 18-months of age. We report both these families with variable presentation of an autosomal dominant condition and describe the phenotypic presentation in both these families in further detail and review the published literature on this condition.
authors.affiliation: Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK. Electronic address: meena.balasubramanian@nhs.net.
authors.forename: Meena
authors.initials: M
authors.lastname: Balasubramanian
authors.forename: Vani
authors.initials: V
authors.lastname: Jain
authors.forename: Rhona C
authors.initials: RC
authors.lastname: Glover
authors.forename: Lisa K
authors.initials: LK
authors.lastname: Robertson
authors.forename: Santosh R
authors.initials: SR
authors.lastname: Mordekar
mesh_terms: D000328:Adult; D002648:Child; D005260:Female; D020786:Hemangioma, Cavernous, Central Nervous System / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D000075927:KRIT1 Protein; D008279:Magnetic Resonance Imaging; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*
chemical_list: D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins
keywords: Cerebral cavernous malformation; KRIT1